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Molecular Human Reproduction, Vol. 7, No. 5, 409-413, May 2001
© 2001 European Society of Human Reproduction and Embryology

Testis and spermatogenesis

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis

Koji Muroya1,2, Isoji Sasagawa3, Yasuhiro Suzuki3, Teruhiro Nakada3, Tomohiro Ishii1 and Tsutomu Ogata1,2,4

1 Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, 2 Department of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo and 3 Department of Urology, Yamagata University School of Medicine, Yamagata, Japan

Abstract

We report on mutation screening and CAG repeat length analysis of the androgen receptor (AR) gene in 21 patients with hypospadias. The urethral meatus was located at the glandular region in six patients (glandular type), at the penile shaft in seven patients (penile type), and at the scrotal/perineal region in eight patients (scrotal/perineal type). Mutation screening was performed for exons 1–8 and their flanking introns (except for the CAG and GGC repeat regions at exon 1) by the heteroduplex detection method and showed no abnormal chromatograms. The CAG repeat length analysis was carried out using 50 normal boys and 50 fertile males as controls, and demonstrated no statistically significant difference in the median of CAG repeat lengths or in the frequency of long CAG repeats (>=26 or >=28) between the controls and the patients with the three different types of hypospadias. The results suggest that AR gene abnormalities do not constitute a major factor in the development of hypospadias.

androgen receptor/CAG repeat length/hypospadias/mutation screening

Notes

4 To whom correspondence should be addressed. E-mail: t-ogata{at}po.iijnet.or.jp


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